Growth hormone deficiency screening: Difference between revisions

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Revision as of 22:23, 14 August 2017

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Genetic screening indications:

Early onset of growth failure
Positive family history and possible consanguinity,
Height more than 3 sd below the mean
Extremely low GH response to provocation tests, including GHRH, and very low IGF-I and IGF-binding protein-3 (IGFBP-3) levels

@@ Line 5: / Line 5: @@
 ==Overview==
 ==Screening==
 ''Genetic screening indications:''
+* Early onset of growth failure
-) early onset of growth failure
+* Positive family history and possible consanguinity,
+* Height more than 3 sd below the mean
-) positive family history and possible consanguinity,
+* Extremely low GH response to provocation tests, including GHRH, and very low IGF-I and IGF-binding protein-3 (IGFBP-3) levels
-) height more than 3 sd below the mean
-) extremely low GH response to provocation tests, including GHRH, and very low IGF-I and IGF-binding protein-3 (IGFBP-3) levels
-have recently provided an excellent review of genetic testing in short stature in which they recommend testing for GH1 and GHRHR mutations in children with severe GHD and a family history of GHD (35*).
-Alatzoglou et al. recently found mutations in GH1 or GHRHR. (38)
-In addition to mutations in GH1 and GHRHR, a heterozygous deletion in the high mobility group A2 (HMGA2) gene, which encodes a transcription factor,
-(40*
-Lynch et al. recently demonstrated that children with 12q14 microdeletion in which the deletion includes the HMGA2 gene have extreme short stature, whereas children whose deletion ends prior to HMGA2, leaving HMGA2 intact, have only a mild degree of short stature (41).
-Mutational analysis of GHSR1A may be a useful tool in the future for children with familial short stature.
 ==References==